A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7085



Internal ID15536779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52195230..52227314hg38UCSC Ensembl
Outerchr4:53061396..53093480hg19UCSC Ensembl
Outerchr4:52756153..52788237hg18UCSC Ensembl
Outerchr4:52902324..52934408hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg387350
hg197350
hg187350
hg177350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4336
Supporting Variants
SamplesNA12156
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv7085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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